Experiments

Searchable full-text extractions: founding hypothesis, core claims, experimental setups, key results and statistics — pulled out of each paper as structure. Search a cell line, an assay or an entity (e.g. HUH7) and find every paper that worked with it. This corpus stands on its own: most entries carry no reproduction assessment (yet).

Publications 1.3k Datasets 392.5k Experiments 29

System / cell line: patients ✕ Assay: coding-region ✕ Clear

Mutation analysis of the MDM4 gene in German breast cancer patients.

PMID 18279506 · PMC2259322 · BMC cancer · 2008 · 8 claims · 8 setups

Full-text index only

Resequencing of the whole MDM4 coding region in 40 German familial breast cancer patients uncovered two coding variants (V74V and D153G) in 4/40 patients

german bilateral mdm4 lymphoid direct rflp-based splice
Absence of mutations in NR2E1 and SNX3 in five patients with MMEP (microcephaly, microphthalmia, ectrodactyly, and prognathism) and related phenotypes.

PMID 17655765 · PMC1950490 · BMC medical genetics · 2007 · 8 claims · 3 setups

Full-text index only

No coding mutations were found in NR2E1 or SNX3 in five patients with MMEP or related phenotypes

patients unaffected sanger restriction
Novel SOX2 mutations and genotype-phenotype correlation in anophthalmia and microphthalmia.

PMID 19921648 · PMC2787970 · American journal of medical genetics. Part A · 2009 · 7 claims · 4 setups

Full-text index only

SOX2 coding-region mutations were identified in 10 of 51 (19.6%) unrelated individuals with anophthalmia/microphthalmia

blood parents sox2-mutation-positive pcr parental clinical
TM4SF10 gene sequencing in XLMR patients identifies common polymorphisms but no disease-associated mutation.

PMID 15345028 · PMC517934 · BMC medical genetics · 2004 · 8 claims · 4 setups

Full-text index only

No disease-associated mutations were found in TM4SF10 in 16 XLMR patients from 14 families with linkage to the TM4SF10 locus.

genomic dog sage pcr northern sage
Human CCS gene: genomic organization and exclusion as a candidate for amyotrophic lateral sclerosis (ALS).

PMID 11991808 · PMC107843 · BMC genetics · 2002 · 6 claims · 5 setups

Full-text index only

The genomic organization of human CCS was characterized, with the 823 bp coding region organized into 8 exons spanning 12798 bp of genomic DNA.

bac heart ccs genomic genomic rt-pcr transcription
A novel missense mutation of doublecortin: mutation analysis of Korean patients with subcortical band heterotopia.

PMID 16100463 · PMC2782167 · Journal of Korean medical science · 2005 · 7 claims · 4 setups

Full-text index only

A novel heterozygous DCX missense mutation, c.386C>T (S129L) in exon 3, is responsible for SBH in Patient 1

peripheral genomic pcr direct pcr rflp
Sequence changes in predicted promoter elements of STK11/LKB1 are unlikely to contribute to Peutz-Jeghers syndrome.

PMID 15774015 · PMC1084245 · BMC genomics · 2005 · 6 claims · 4 setups

Full-text index only

Integrated phylogenetic foot printing and transcription factor binding site (TFBS) prediction identified a consensus putative STK11/LKB1 promoter region between nucleotides -1090 and -1472

genomic phylogenetic direct high
Kangaroo--a pattern-matching program for biological sequences.

PMID 12150718 · PMC119856 · BMC bioinformatics · 2002 · 7 claims · 2 setups

Full-text index only

Kangaroo is a web-based regular expression pattern-matching program that searches DNA, protein, or coding-region sequences across ten organisms with no restriction on query length or complexity.

coding regular-expression mutation
Dinucleotide repeat polymorphism in Fms-like tyrosine kinase-1 (Flt-1) gene is not associated with preeclampsia.

PMID 18631405 · PMC2496902 · BMC medical genetics · 2008 · 7 claims · 2 setups

Full-text index only

The Flt-1 d(TG)n repeat polymorphism is not associated with the development of preeclampsia in Korean pregnant women

genomic same pcr clinical
Deletion of the V2 vasopressin receptor gene in two Chinese patients with nephrogenic diabetes insipidus.

PMID 17101063 · PMC1657029 · BMC genetics · 2006 · 7 claims · 6 setups

Full-text index only

The two NDI patients carry a 5,995-bp genomic deletion combined with a 3-bp (GAG) insertion at Xq28 that removes the entire AVPR2 gene and the last exon (exon 22) of the C1 (ARHGAP4) gene.

genomic proband blood patients pcr long-range combined
The spectrum of NF1 mutations in Korean patients with neurofibromatosis type 1.

PMID 16479075 · PMC2733956 · Journal of Korean medical science · 2006 · 7 claims · 5 setups

Full-text index only

NF1 mutations in Korean patients show a wide spectrum distributed across exon 3 to intron 47 with no mutational hot spots

blood-derived lymphocytes blood unrelated genomic rt-pcr microsatellite
Compound heterozygosity for a novel and a recurrent MFRP gene mutation in a family with the nanophthalmos-retinitis pigmentosa complex.

PMID 19753314 · PMC2742641 · Molecular vision · 2009 · 8 claims · 8 setups

Full-text index only

Compound heterozygosity for two distinct MFRP mutations (a novel nonsense mutation and a recurrent frameshift mutation) causes the nanophthalmos-retinitis pigmentosa-foveoschisis-optic disc drusen complex in this sibling pair

patients eyes genomic ophthalmological a-mode electroretinogram
Evaluating genome sequencing strategies: trio, singleton, and standard testing in rare disease diagnosis.

PMID 40963120 · PMC12445032 · Genome medicine · 2025 · 7 claims · 4 setups

Has reproduction · 88

Trio genome sequencing (tGS) achieves higher prospective diagnostic yield than standard-of-care (SoC) and singleton genome sequencing (sGS) even when performed by a newly trained team.

individuals index blood short-read exome array
Analysis of nucleotide diversity of NAT2 coding region reveals homogeneity across Native American populations and high intra-population diversity.

PMID 16847467 · PMC3099416 · The pharmacogenomics journal · 2007 · 8 claims · 6 setups

Full-text index only

NAT2 variants are homogeneously distributed across native populations of the American continent

chromosomes same inferred american pcr statistical haplotype
Gene expression study on peripheral blood identifies progranulin mutations.

PMID 18551524 · PMC2773201 · Annals of neurology · 2008 · 7 claims · 3 setups

Full-text index only

PGRN is highly expressed in peripheral blood (97th percentile of all array genes)

peripheral blood-derived microarray direct real-time
Single nucleotide polymorphisms of the APC gene and colorectal cancer risk: a case-control study in Taiwan.

PMID 16569251 · PMC1488868 · BMC cancer · 2006 · 7 claims · 4 setups

Full-text index only

Three novel APC germline mutations were identified in Taiwanese subjects: a frameshift deletion at codon 460 (g.1378delG), and two missense substitutions p.V1125A and p.S1126R

genomic taiwanese dhplc pcr sanger
Comprehensive molecular etiology analysis of nonsyndromic hearing impairment from typical areas in China.

PMID 19744334 · PMC2754984 · Journal of translational medicine · 2009 · 8 claims · 8 setups

Full-text index only

GJB2 mutations account for 18.31% (52/284) of patients with nonsyndromic hearing loss

peripheral patients mtdna slc26a4 pcr pcr-based sanger
APC mutation analysis by chemical cleavage of mismatch and a protein truncation assay in familial adenomatous polyposis.

PMID 7524601 · PMC2033526 · British journal of cancer · 1994 · 7 claims · 8 setups

Full-text index only

Chemical cleavage of mismatch (HOT) analysis combined with sequencing identified inactivating constitutional APC mutations in 9 of 10 (90%) linkage-confirmed FAP patients, far exceeding the ~30% detection rate reported in the literature.

blood pcr pcr-amplified cdna chemical sequencing single-strand
Eighth major clade for hepatitis delta virus.

PMID 17073101 · PMC3294742 · Emerging infectious diseases · 2006 · 7 claims · 7 setups

Full-text index only

Three HDV isolates (dFr644, dFr2072, dFr2736) form a monophyletic group distinct from HDV-1 through HDV-7, constituting a new eighth major clade (HDV-8) of the Deltavirus genus.

serum-derived complete same shd rt-pcr sequence phylogenetic
Mutation spectrum of 122 hemophilia A families from Taiwanese population by LD-PCR, DHPLC, multiplex PCR and evaluating the clinical application of HRM.

PMID 18565236 · PMC2442058 · BMC medical genetics · 2008 · 7 claims · 6 setups

Full-text index only

The combined LD-PCR/DHPLC diagnostic strategy achieved a 100% mutation detection rate across 122 Taiwanese hemophilia A families.

genomic pcr long-distance pcr sanger

Experiments

Mutation analysis of the MDM4 gene in German breast cancer patients.

Absence of mutations in NR2E1 and SNX3 in five patients with MMEP (microcephaly, microphthalmia, ectrodactyly, and prognathism) and related phenotypes.

Novel SOX2 mutations and genotype-phenotype correlation in anophthalmia and microphthalmia.

TM4SF10 gene sequencing in XLMR patients identifies common polymorphisms but no disease-associated mutation.

Human CCS gene: genomic organization and exclusion as a candidate for amyotrophic lateral sclerosis (ALS).

A novel missense mutation of doublecortin: mutation analysis of Korean patients with subcortical band heterotopia.

Sequence changes in predicted promoter elements of STK11/LKB1 are unlikely to contribute to Peutz-Jeghers syndrome.

Kangaroo--a pattern-matching program for biological sequences.

Dinucleotide repeat polymorphism in Fms-like tyrosine kinase-1 (Flt-1) gene is not associated with preeclampsia.

Deletion of the V2 vasopressin receptor gene in two Chinese patients with nephrogenic diabetes insipidus.

The spectrum of NF1 mutations in Korean patients with neurofibromatosis type 1.

Compound heterozygosity for a novel and a recurrent MFRP gene mutation in a family with the nanophthalmos-retinitis pigmentosa complex.

Evaluating genome sequencing strategies: trio, singleton, and standard testing in rare disease diagnosis.

Analysis of nucleotide diversity of NAT2 coding region reveals homogeneity across Native American populations and high intra-population diversity.

Gene expression study on peripheral blood identifies progranulin mutations.

Single nucleotide polymorphisms of the APC gene and colorectal cancer risk: a case-control study in Taiwan.

Comprehensive molecular etiology analysis of nonsyndromic hearing impairment from typical areas in China.

APC mutation analysis by chemical cleavage of mismatch and a protein truncation assay in familial adenomatous polyposis.

Eighth major clade for hepatitis delta virus.

Mutation spectrum of 122 hemophilia A families from Taiwanese population by LD-PCR, DHPLC, multiplex PCR and evaluating the clinical application of HRM.